A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588



Internal ID15204047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40066371..40071878hg38UCSC Ensembl
Outerchr1:40532043..40537550hg19UCSC Ensembl
Outerchr1:40304630..40310137hg18UCSC Ensembl
Outerchr1:40201136..40206643hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387228
hg197228
hg187228
hg177228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10831
SamplesNA18956
Known GenesCAP1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv588
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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